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Terminology chevron_right Concepts chevron_right 403830007

Production
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403830007
The component that hold information about this concept.
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)
Familial hypercholesterolemia due to homozygous ldl receptor mutation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)

SCTID: 403830007, Primitive, Active


403830007|Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)|
  • en Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation
  • en Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
  • en Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)
  • en Familial hypercholesterolaemia due to homozygous ldl receptor mutation
  • en Familial hypercholesterolemia due to homozygous ldl receptor mutation

403830007 |Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)|

<<< 238078005 |Familial hypercholesterolemia - homozygous (disorder)| :
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 412808005 |Serum total cholesterol measurement (procedure)| }
Active

3035909011 - Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation (en) View

3035909011
en
Synonym (core metadata concept)
Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2972477013 - Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (en) View

2972477013
en
Synonym (core metadata concept)
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2972813013 - Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder) (en) View

2972813013
en
Fully specified name (core metadata concept)
Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

1771756014 - Familial hypercholesterolemia due to homozygous LDL receptor mutation (disorder) (en) View

1771756014
en
Fully specified name (core metadata concept)
Familial hypercholesterolemia due to homozygous LDL receptor mutation (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

1773758016 - Familial hypercholesterolaemia due to homozygous LDL receptor mutation (en) View

1773758016
en
Synonym (core metadata concept)
Familial hypercholesterolaemia due to homozygous LDL receptor mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

1775044011 - Familial hypercholesterolemia due to homozygous LDL receptor mutation (en) View

1775044011
en
Synonym (core metadata concept)
Familial hypercholesterolemia due to homozygous LDL receptor mutation
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (2250516021) - 403830007 -> 398036000 (116680003) View

116680003 |Is a (attribute)|
398036000 |Familial hypercholesterolemia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16344605021) - 403830007 -> 238078005 (116680003) View

116680003 |Is a (attribute)|
238078005 |Familial hypercholesterolemia - homozygous (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (3800407024) - 403830007 -> 166830008 (363705008) View

363705008 |Has definitional manifestation (attribute)|
166830008 |Serum cholesterol above reference range (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9358387027) - 403830007 -> 281302008 (363713009) View

363713009 |Has interpretation (attribute)|
281302008 |Above reference range (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9533536027) - 403830007 -> 412808005 (363714003) View

363714003 |Interprets (attribute)|
412808005 |Serum total cholesterol measurement (procedure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (2291258024) - 403830007 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

238078005 View

238078005
Familial hypercholesterolemia - homozygous (disorder)
Familial homozygous hypercholesterolemia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (6d7ffc14-3acb-55dd-90a2-e48d107d5700) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E78.0
TRUE
ALWAYS E78.0
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
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